Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Gene Location [1]
6q25.1-q25.2
Pathway
Hormone signaling
Variant Type
Substitution - Missense
Affected Exon Number
5
Gene
ESR1
Protein Domain [2]
NR LBD
SIFT Prediction [3]
Deleterious
ClinVar Prediction [3]
Likely pathogenic

ESR1 E380Q is present in 0.10% of AACR GENIE cases, with breast carcinoma and breast neoplasm, NOS having the greatest prevalence [4].

Top Disease Cases with ESR1 E380Q

Biomarker-Directed Therapies

Significance of ESR1 E380Q in Diseases

Breast Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.